Startle disease—hyperekplexia (two sibling cases)

Altunbaşak, Şakìr; Baytok, Vildan

doi:10.1016/s1059-1311(96)80027-6

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…Affected neonates suffer from prolonged periods of rigidity and are at risk for sudden death from apnea as in our first case study and the cases reported by Nigro et al [12]. The tonic attacks can be triggered by gentle percussion at the base of the nose, other tactile stimulation like bath, or visual stimulation [1]. Sudden loud sounds (telephone) or heat can also elicit tonic attack [5].…”

Section: Discussionmentioning

confidence: 94%

Congenital hyperekplexia: five sporadic cases

et al. 2005

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Section: Discussionmentioning

confidence: 94%

Congenital hyperekplexia: five sporadic cases

et al. 2005

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“…One double-blind, placebo controlled, cross-over study that included four patients revealed that patients on clonazepam had reduced startle activity compared to vigabatrin as measured by startle to auditory stimuli. 67 Despite often dramatic response to clonazepam, 2,4,[7][8][9]16,23,25,26,29,30,[49][50][51]53,67 there are other reports that have found clonazepam to be less effective. 5,11,16,27,31,61 Saenz-Lope et al 27 found clonazepam ineffective in their three patients but had some success with the use of valproic acid and a combination of hydroxytryptophan and piracetam.…”

Section: Clonazepammentioning

confidence: 99%

Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

Mineyko

Whiting

Graham

2011

Can. J. Neurol. Sci.

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Hyperekplexia is a syndrome of exaggerated startle response to tactile, auditory, or other stimuli. 1 Patients can present early in the neonatal period with episodes of stiffening that can be so severe as to cause apnea and death, 2-9 a phenotype often referred to as "stiff-baby syndrome." 5 With time, the life-threatening manifestations of hyperekplexia are replaced by startle responses that are characterized by stiffening and falls. 2,5,8,10 Less severely affected patients experience excessive startle without significant stiffening. 11 Onset of symptoms can occur after the neonatal period and can be into adulthood. 12,13 Hyperekplexia is understood to be a monogenic, though heterogeneous, disorder. Autosomal dominant, autosomal recessive, and apparently sporadic forms (that are more likely the result of de novo mutations) have been recognized. 14 Mutations responsible for hyperekplexia have been found in the alpha 1 subunit of the glycine receptor gene (GLRA1), 15 the beta glycine receptor subunit gene (GLRB), 16 the presynaptic sodiumand chloride-dependent glycine transporter 2 gene ABSTRACT: Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. Five causative genes have been identified to date. The syndrome has been recognized for decades and due to its rarity, the literature contains mostly descriptive reports, many early studies lacking molecular genetic diagnoses. A spectrum of clinical severity exists. Severe cases can lead to neonatal cardiac arrest and death during an episode, an outcome prevented by early diagnosis and clinical vigilance. Large treatment studies are not feasible, so therapeutic measures continue to be empiric. A marked response to clonazepam is often reported but refractory cases exist. Herein we report the clinical course and treatment response of a severely affected infant homozygous for an SLC6A5 nonsense mutation and review the literature summarizing the history and genetic understanding of the disease as well as the described comorbidities and treatment options. RÉSUMÉ: Hyperekplexie : traitement d'un phénotype sévère et revue de la littérature. L'hyperekplexie est une maladie caractérisés par des épisodes de réaction exagérée de sursaut et dont le mode d'hérédité peut être dominant ou récessif. À ce jour, cinq gènes différents ont été identifiés. Le syndrome est connu depuis plusieurs dizaines d'années et, à cause de sa rareté, la littérature fait état surtout de descriptions de cas dont plusieurs, surtout les premières, ne comportent pas de diagnostic moléculaire. La sévérité clinique est très variable et, chez les cas sévères, la maladie peut entraîner un arrêt cardiaque dans la période néonatale et le décès, ce qui peut être prévenu par un diagnostic précoce et une surveillance clinique. Son traitement demeure empirique parce qu'il n'est pas possible d'effectuer de grandes études sur ce sujet. Bien qu'une excellente réponse au clonazépam soit souvent rapportée, il existe des cas ré...

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Genetic defects in ion channels and neurological diseases in clinical, genetic and physiological aspects

et al. 2000

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Since the 90s, mutations in genes encoding ion channel proteins have been described. These mutations are responsible for the development of a number of neurological diseases called canalopathies (CP) [30, 36]. It is of interest to study the clinical features of hereditary neurological diseases, the pathogenesis of which are genetic defects in ion channels, from a single angle of view, as well as an attempt to analyze the probable physiological processes underlying these diseases. This approach may be important for a new systematization of these diseases, usually belonging to different groups, and for the development of a modern strategy for their therapy.

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Startle disease—hyperekplexia (two sibling cases)

Cited by 3 publications

References 14 publications

Congenital hyperekplexia: five sporadic cases

Congenital hyperekplexia: five sporadic cases

Hyperekplexia: Treatment of a Severe Phenotype and Review of the Literature

Genetic defects in ion channels and neurological diseases in clinical, genetic and physiological aspects

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